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Mutation screening of the sodium iodide symporter gene in a cohort of 105 China patients with congenital hypothyroidism / Análise de mutações no gene simportador sódio/iodeto em coorte de 105 pacientes chineses com hipotireoidismo congênito
Fu, Chunyun; Chen, Shaoke; Chen, Rongyu; Fan, Xin; Luo, Jingsi; Li, Chuan; Qian, Jiale.
  • Fu, Chunyun; Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. Children’s Hospital. Department of Genetic Metabolism.
  • Chen, Shaoke; Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. Children’s Hospital. Department of Genetic Metabolism.
  • Chen, Rongyu; Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. Children’s Hospital. Department of Genetic Metabolism.
  • Fan, Xin; Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. Children’s Hospital. Department of Genetic Metabolism.
  • Luo, Jingsi; Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. Children’s Hospital. Department of Genetic Metabolism.
  • Li, Chuan; Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. Children’s Hospital. Department of Genetic Metabolism.
  • Qian, Jiale; Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. Children’s Hospital. Department of Genetic Metabolism.
Arq. bras. endocrinol. metab ; 58(8): 828-832, 11/2014. tab, graf
Article in English | LILACS | ID: lil-729793
ABSTRACT
Objective Dyshormonogenetic congenital hypothyroidism (CH) was reported to be associated with a mutation in the sodium iodide symporter (NIS) gene. The present study was undertaken in the Guangxi Zhuang Autonomous Region of China, to determine the nature and frequency of NIS gene mutations among patients with CH due to dyshormonogenesis. Subjects and

methods:

Blood samples were collected from 105 dyshormonogenetic CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the NIS gene together with their exon-intron boundaries were screened by next-generation sequencing. Results Two silent variations (T221T and T557T) and one missense variation (M435L), as well as two polymorphisms (rs200587561 and rs117626343) were found. Conclusions Our results indicate that the NIS mutation rate is very low in the Guangxi Zhuang Autonomous Region, China, and it is necessary to study mutations of other genes that have major effects on thyroid dyshormonogenesis and have not as yet been studied in this population. .
RESUMO
Objetivo O hipotireoidismo congênito disormonogenético (CH) foi relatado como associado a uma mutação no gene simportador sódio/iodeto (NIS). O presente estudo foi feito na região autônoma de Guangxi Zhuang na China para se determinar a natureza e a frequência das mutações no gene NIS entre pacientes com CH causado por disormonogênese. Sujeitos e

métodos:

Amostras de sangue foram coletadas de 105 pacientes com CH disormonogenéticos e o DNA genômico foi extraído de leucócitos do sangue periférico. Todos os éxons do gene NIS, junto com seus limites éxon-íntron, foram analisados por sequenciamento de nova geração. Resultados Foram encontradas duas variações silenciosas (T221T e T557T) e uma variação missense (M435L), assim como dois polimorfismos (rs200587561 e rs117626343). Conclusões Nossos resultados indicam que a taxa de mutação em NIS é muito baixa na região de Guangxi Zhuang. É necessário estudar mutações de outros genes que tenham efeitos maiores na disormonogênese da tiroide e que ainda não tenham sido estudados nesta população. .
Subject(s)


Full text: Available Index: LILACS (Americas) Main subject: Congenital Hypothyroidism / Symporters / Gene Frequency / Mutation Type of study: Diagnostic study / Etiology study / Incidence study / Observational study / Risk factors / Screening study Limits: Humans / Infant, Newborn Country/Region as subject: Asia Language: English Journal: Arq. bras. endocrinol. metab Journal subject: Endocrinology / Metabolism Year: 2014 Type: Article / Project document Affiliation country: China

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Full text: Available Index: LILACS (Americas) Main subject: Congenital Hypothyroidism / Symporters / Gene Frequency / Mutation Type of study: Diagnostic study / Etiology study / Incidence study / Observational study / Risk factors / Screening study Limits: Humans / Infant, Newborn Country/Region as subject: Asia Language: English Journal: Arq. bras. endocrinol. metab Journal subject: Endocrinology / Metabolism Year: 2014 Type: Article / Project document Affiliation country: China